A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124384



Internal ID19252552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:140349343..140349395hg38UCSC Ensembl
Outerchr8:141359442..141359494hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976194, nssv3986892
SamplesKWS2, KWS1
Known GenesTRAPPC9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124384
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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